Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 757-760, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776813
ABSTRACT
OBJECTIVE@#To identify pathogenic variations of EXT1 and EXT2 genes in two Chinese pedigrees affected with hereditary multiple exostosis (HME).@*METHODS@#Genomic DNA was extracted from peripheral blood samples using a phenol-chloroform method. PCR and Sanger sequencing was conducted to amplify the exons and the flanking intronic regions of the EXT1 and EXT2 genes.@*RESULTS@#DNA sequencing has revealed a heterozygous missense variation c.812A>G (p.Tyr271Cys) in the exon 1 of EXT1 in pedigree 1, and a heterozygous frameshift variation c.1431dup (p.Ser478Leufs*43) in the exon 6 of EXT1 in the proband from pedigree 2. Both variations have co-segregated with the disease phenotype, which was also consistent with previous report.@*CONCLUSION@#Two heterozygous pathogenic variations underlying HME have been identified. The result has facilitated genetic counseling and prenatal diagnosis for the affected pedigrees.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Linhagem
/
Análise Mutacional de DNA
/
Sequência de Bases
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Exostose Múltipla Hereditária
/
Mutação da Fase de Leitura
/
N-Acetilglucosaminiltransferases
/
Mutação de Sentido Incorreto
/
Povo Asiático
/
Genética
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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